A100V (p.Ala100Val) variant of MSI1 (O43347)
A100V (p.Ala100Val) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A100V (p.Ala100Val) variant details
- p.Ala100Val
- 1000Genomes rs201913745
- ExAC rs201913745
- TOPMed rs201913745
- gnomAD rs201913745
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.47
- CADD 25.50
- PolyPhen-2 0.36
- SIFT 0.04
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available